TSC2 c.886G>A ;(p.V296M)

Variant ID: 16-2108785-G-A

NM_000548.3(TSC2):c.886G>A;(p.V296M)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.

Jama Network Open
SoRelle, Jeffrey A JA; Pascual, Juan M JM; Gotway, Garrett G; Park, Jason Y JY
Publication Date: 2020-04-01

Variant appearance in text: TSC2: 886G>A; Val296Met; rs747237113
PubMed Link: 32347949
Variant Present in the following documents:
  • jamanetwopen-3-e203812-s001.pdf
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: TSC2: 886G>A; V296M
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Autism Spectrum Disorder and miRNA: An Overview of Experimental Models.

Brain Sciences
Schepici, Giovanni G; Cavalli, Eugenio E; Bramanti, Placido P; Mazzon, Emanuela E
Publication Date: 2019-10-03

Variant appearance in text: TSC2: Val296Met
PubMed Link: 31623367
Variant Present in the following documents:
  • Main text
  • brainsci-09-00265.pdf
View BVdb publication page



Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget
Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P
Publication Date: 2017-12-08

Variant appearance in text: TSC2: V296M
PubMed Link: 29296220
Variant Present in the following documents:
  • oncotarget-08-108020-s006.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: TSC2: 886G>A; V296M
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page